Natalie Loundon - Academia.edu (original) (raw)

Papers by Natalie Loundon

Research paper thumbnail of Bilateral implantation in children with cochleovestibular nerve hypoplasia

International journal of pediatric otorhinolaryngology, 2009

To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inn... more To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive...

Research paper thumbnail of Canalplasty for congenital atresia of the external auditory canal

European annals of otorhinolaryngology, head and neck diseases, 2013

Canalplasty for congenital atresia of the external auditory canal is associated with a high posto... more Canalplasty for congenital atresia of the external auditory canal is associated with a high postoperative stenosis rate in the literature. The authors describe an original surgical and stenting technique that has been used systematically since 2000 in the paediatric otolaryngology department of Trousseau hospital in Paris. After minimal endaural canalplasty, possibly combined with lining of the external auditory canal by skin graft, a stent is sutured to the opening of the ear canal and left in place for 4 weeks. This stenting technique can be used for a shorter duration after tympanoplasty in children with behavioural disorders.

Research paper thumbnail of Cochlear implant in the carotid canal. Case report and literature review

International journal of pediatric otorhinolaryngology, 2010

Numerous complications have been described following cochlear implantation. Most of them are post... more Numerous complications have been described following cochlear implantation. Most of them are post-operative and benign, but some are intra-operative and can be more difficult to manage. Case report of a pediatric case of misplaced cochlear electrode in the carotid canal and literature review. Post-operative CT-scan allowed the diagnosis. The misplaced cochlear implant in the carotid canal was successfully removed and a successful re-implantation followed immediately. Anatomy of the interval between the cochlea and the carotid canal is reviewed, together with information regarding the neural telemetry response. In each case, specific anatomical landmarks must be identified to perform the cochleostomy in the right position. If not, or if surgery proves itself difficult, the surgeon should intra-operatively control the position of the electrode.

Research paper thumbnail of Results of cochlear implantation in two children with mutations in the OTOF gene

International journal of pediatric otorhinolaryngology, 2006

The purpose of the study is to present the results of cochlear implantation in case of deafness i... more The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence of transient evoked otoacoustic emissions (TEOAE). In cases of profound deafness with preserved TEOAE, two main etiologies should be considered: either an auditory neuropathy (a retrocochlear lesion) or an endocochlear lesion. It is essential to differentiate these two entities with regards to therapy and screening. We report two children who presented with profound prelingual deafness, confirmed by the absence of detectable responses to auditory evoked potentials (AEP), associated with the presence of bilateral TEOAE. Genetic testing revealed mutations in OTOF, confirming DFNB9 deafness. Both patients have been successfully implanted (with a follow-up of 18 and 36 months, respectively). Clinical (oral production, closed and open-set words and sentences list, meaningful auditory integration scale)...

Research paper thumbnail of Cochlear implant failure and revision surgery in pediatric population

The Annals of otology, rhinology, and laryngology, 2015

This study aimed to report pediatric cochlear reimplantation data focusing on failure of the devi... more This study aimed to report pediatric cochlear reimplantation data focusing on failure of the device and to assess surgical challenges and functional outcomes. Retrospective case review from 1990 to 2012. Tertiary referral academic center. A retrospective review of medical and surgical records, audiologic results, and report of the manufacturer's analysis was performed. The causes of revision cochlear implantation were divided into hard failure and soft failure. Results compared speech perception in open set or closed set words before and after revision surgery with cochlear implant only. During the study period, 877 cochlear implantations were performed. Our reimplantation rate for failure of the device is 5.7% (50 of 877). The main reasons for hard failure were loss of hermeticity and cracked casing following head trauma. Surgical difficulties might be due to neo-osteogenesis related to the use of bone dust. Initial atraumatic insertion is important to ensure that revision surg...

Research paper thumbnail of Pediatric Cochlear Implantation in Residual Hearing Candidates

The Annals of otology, rhinology, and laryngology, Jan 13, 2015

To propose categories for the various types of residual hearing in children and to review the out... more To propose categories for the various types of residual hearing in children and to review the outcomes of cochlear implantation (CI) in children with these different hearing conditions. We identified 53 children with residual hearing who had received a cochlear implant. Five groups were arbitrarily defined based on auditory features: G1, characterized by low-frequency residual hearing (n = 5); G2, characterized by severe sensorineural hearing loss (SNHL) and low speech discrimination (n = 12); G3, characterized by asymmetric SNHL (n = 9); G4, characterized by progressive SNHL (n = 15); and G5, characterized by fluctuating SNHL (n = 12). The main audiometric features and outcomes of the groups were analyzed. The mean age at implantation was 10.15 years (range, 2.5-21 years). The mean preoperative score for the discrimination of open-set words was 48%; this score increased to 74% at 12 months and 81% at 24 months after the CI procedure (G1 to G5, respectively: 79/62/77%, 50/81/88%, 59...

Research paper thumbnail of Cochlear implant and inner ear malformation

International Journal of Pediatric Otorhinolaryngology, 2008

The objective of this retrospective study is to evaluate the efficiency of hyperosmolar therapy f... more The objective of this retrospective study is to evaluate the efficiency of hyperosmolar therapy for cerebrum spinal fluid (CSF) leakage in cochlear implant (CI) surgery in children with inner ear malformations. Between 1991 and 2006, 490 cochlear implantations were performed in Armand Trousseau Children's Hospital. Thirty-seven patients (7.5%) had inner ear malformation. They were classified as isolated enlargement of the vestibular aqueduct (EVA) (18 cases), incomplete partition (IP) (11 cases), common cavity (CC) (1 case) and variable canal and vestibular malformations (VSCC) (7 cases). A hyperosmolar protocol was applied during surgery to 13 patients after 2003 (Gp) to be compared to the 24 patients without treatment previously to this date (G0). Mean age at implant CI was 8.1 years (1-20 years), mean follow up was 3.9 years (1 month-15 years). Per operative observations were collected for all patients with an empiric method of evaluation of the leakage. A grading using five steps ranged from Grade 0 (no leak) to Grade 4 (gusher). Grading, complications and perceptive results in closed and open set word (Lafon lists) at respectively preoperatively, at 3 and 24 months were gathered and compared between the two groups. Important per operative leak was observed (Grade 4) in 24.3% cases (9/37) of Grade 4, 88.8% of them in G0 (8/9). In 66.6% cases there was a severe dysplasia (CC or IP) (6/9), to be compared to the 21.4% of cases of severe dysplasia with Grade < 3 (6/28) ( p = 0.02). Grade 4 was seen in 45% cases of IP (5/11); it represented 33.3% of the IP in Gp (1/3), and 50% of the IP in G0 (4/8) ( p > 0.05). Grade 4 was seen in 16.6% cases of EVA (3/18); there were no Grade 4 observed in Gp (0/10), and 37.5% cases of EVA in G0 (3/8) ( p = 0.04). Grade 4 was observed in 100% case in CC in the G0 (1/1). Severe complications were misplacement of the electrode in one case (G0), persistent leakage in one case (G0) and meningitis in one case (Gp). Vertigo was observed in 29.7% of cases (11/37) in this population, 72.7% of them in G0 * Corresponding author at: Service d'Oto-rhino-laryngologie et de chirurgie cervico-faciale, Hôpital d'enfants Armand-Trousseau,

Research paper thumbnail of Cochlear implantation and vestibular function in children

International Journal of Pediatric Otorhinolaryngology, 2015

To analyze vestibular function Q2 (VF) after cochlear implantation (CI) in children. Retrospectiv... more To analyze vestibular function Q2 (VF) after cochlear implantation (CI) in children. Retrospective cohort study at a tertiary pediatric referral center. 43 children that had vestibular testing (VT) after unilateral cochlear implantation, from 2001 to 2010, were included. CT scan of the temporal bone was done systematically before surgery. VT included three tests: head-impulse test, caloric tests, vestibular evoked myogenic potentials. VF was graded in: normal (type 1), partial dysfunction (type 2), severe dysfunction and areflexia (type 3). In 12 cases, VT was done before and after CI. Vestibular function was analyzed looking to side, etiology and preoperative status. Mean age at CI was 2.9 years. Bilateral inner ear malformation were retrieved in 16%. Before surgery, 50% of children had normal vestibular responses, 4/12 had bilateral type 2, two had asymmetrical VF. In this group, after surgery, 2 children had VF worsening, none on the CI side only. Considering all 43 patients, post operative VT showed normal response in 48.8% and type 2&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;3 in 16.2%. Children had asymmetrical poorer vestibular function on the side of CI in 19%. Among them, 75% had normal contralateral VF. Sensorineural hearing loss etiologies known to be associated with vestibulopathy (Usher/Meningitis/Inner Ear Malformations/CMV) were associated to abnormal vestibular function more frequently than in other causes (p=0.01). Half of the children had initial vestibular dysfunction. In our study, 20% of cochlear implantation could have worsened vestibular function. As vestibular function should be part of the choice in cochlear implantation, side of implantation and survey; and vestibular tests are uneasy to achieve in pediatric population, we propose a three-steps evaluation and gradation which allow easier comparison.

Research paper thumbnail of Mycophenolate mofetil as a treatment of steroid dependent Cogan's syndrome in childhood

International Journal of Pediatric Otorhinolaryngology, 2009

Research paper thumbnail of Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

International Journal of Pediatric Otorhinolaryngology, 2010

Objective: To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing... more Objective: To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia). Methods: We have gathered 25 patients presenting unilateral hearing impairment and ipsilateral enlarged vestibular aqueduct. For each of the patients, we have analyzed SLC26A4, FOXI1 and KCNJ10 genes sequences. Results: The analysis of SLC26A4 revealed only eight heterozygous SLC26A4 sequence variants, three of them being novel (p.Met147Ile, p.Asn538Asn and p.Leu627Arg). None of the patients carried a second mutation on the other allele. Moreover, the SLC26A4 locus was excluded by segregation analysis in two families. No mutations were present in FOXI1 and KCNJ10 genes. Conclusions: Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct. ß

Research paper thumbnail of Audiophonological results after cochlear implantation in 40 congenitally deaf patients: preliminary results

International Journal of Pediatric Otorhinolaryngology, 2000

The aim of this study is to evaluate the prognostic factors of audiophonological results in cochl... more The aim of this study is to evaluate the prognostic factors of audiophonological results in cochlear implant in congenitally deaf patients. Between 1991 and 1996. 40 congenitally deaf children underwent cochlear implantation in our department, at an average age of 7 years (median: 5 years). The results of speech therapy were evaluated with a mean follow-up of 2 years and were classified according to four criteria: perception of sound, speech perception, speech production and the level of oral language. For each criterion, a score was established ranging from zero to four. These scores were weighted according to age such that the results before and after implantation only reflected the changes related to the implantation. The prognostic factors for good results were: a good level of oral communication before implantation, residual hearing, progressive deafness and implantation at a young age. On the other hand, poor prognostic factors were: the presence of behavioral disorders and poor communication skills prior to implantation. Overall, the major prognostic factor for a good outcome appeared to be the preoperative level of oral language, even if this was rudimentary.

Research paper thumbnail of Hearing rehabilitation with the closed skin bone-anchored implant Sophono Alpha1: Results of a prospective study in 15 children with ear atresia

International journal of pediatric otorhinolaryngology, Jan 3, 2015

To study gain and cutaneous tolerance of the Sophono Alpha1 implant, used for unilateral hearing ... more To study gain and cutaneous tolerance of the Sophono Alpha1 implant, used for unilateral hearing rehabilitation in children with ear atresia, and to demonstrate non-inferiority compared to the referral closed skin device, BAHA® on a test-band. Fifteen children included in a prospective clinical trial from September 2010 to November 2012. Tertiary care center. Main outcomes: Pure tone and speech audiometry before surgery and at M6 and 12; Speech-in-noise tests with and without Alpha1 at M6. Quality of life questionnaire completed before surgery and at M6; children and parent's satisfaction assessed at M6. Cutaneous appearance assessed at M6, M12 and during the last clinical assessment. Patients' ages ranged from 61 to 129 months. They had a pure conductive deafness with a mean air conduction pure-tone average (ACPTA) of 69.02±9.31dB, and a mean SRT of 71.73±9.20dB. Follow-up was 12-32 months. At M6, the mean aided ACPTA was 33.49±4.89dB, the mean aided SRT 38.27±4.54dB and th...

Research paper thumbnail of OTOLARYNGOLOGY-HEAD & NECK SURGERY

Research paper thumbnail of Genotypic and Phenotypic Correlations in a Large Cohort of Hearing-Impaired Patients

Research paper thumbnail of Cochlear Implantation in Children with Internal Ear Malformations

Otology & Neurotology, 2005

To evaluate surgical aspects and results of cochlear implantation in inner ear malformations. Ret... more To evaluate surgical aspects and results of cochlear implantation in inner ear malformations. Retrospective cohort study. Ear, nose, and throat department of a tertiary referral hospital. Out of 260 implanted children, 18 (6.9%) had inner ear malformations: complex cochleovestibular malformation (n = 11), common cavity (n = 1), and enlarged vestibular aqueduct (EVA) (n = 6). Deafness was progressive in 12 cases (G1) and congenital in 6 cases (G2). Genetics lead to diagnosis in 12 of 13 cases: PSD mutation (n = 11), Waardenburg syndrome (n = 1), negative (1). Mean age at implant was 7.8 years. Mean follow-up period was 48 months. Medical and surgical outcomes were reported. Closed (CSW) and open (OSW) set word perception and level of speech production were evaluated each year. The results were compared pre- and postoperatively and between the two groups. Gusher at surgery was observed in 50% of cases, with a persistent leak in one case. No facial injury or infectious complications were observed. At 12 months, 83% of the population had achieved more than 75% recognition in CSW, versus 16% before implant (p = 0.001). After 2 years, 64% of patients had more than 50% recognition in OSW. Good oral language was seen in 76% at 2 years and 100% at 3 years, versus 55% before implant (respectively, p &gt; 0.05 and p = 0.03). At 1 year after implant, 83% of the G1 and 20% of the G2 achieved more than 50% recognition in OSW (p = 0.02). After 24 months, 83% of G1 and 40% of G2 had more than 50% in OSW (p &gt; 0.05). Before implant, 75% in G1 and 0% in G2 had good oral language (p = 0.01). At 1 year, 83% in G1 and 16% in G2 had good oral language (p = 0.02). At 2 years, 100% in G1 and 20% in G2 had good oral language (p = 0.02). One child in G1 had no improvement after implantation. No major complication was seen. Perceptive and linguistic results were variable and depended on the type of the deafness. In progressive deafness, the perceptive and linguistic result are expected to be good. In congenital deafness, the results are more variable.

Research paper thumbnail of Usher Syndrome and Cochlear Implantation

Otology & Neurotology, 2003

To evaluate the symptoms leading to diagnosis and the quality of rehabilitation after cochlear im... more To evaluate the symptoms leading to diagnosis and the quality of rehabilitation after cochlear implantation in Usher syndrome. Retrospective cohort study. ENT department of a tertiary referral hospital. Among 210 patients given an implantation in the Ear, Nose, and Throat department, 185 were congenitally deaf and 13 had Usher syndrome (7.0%). Five had a family history of Usher, and eight were sporadic cases. Eleven cases were Usher type I, one was Usher type III, and one was not classified. The age at implantation ranged from 18 months to 44 years (mean, 6 years 1 month). The mean follow-up was 52 months (range, 9 months to 9 years). All patients had audiophonological and clinical examination, computed tomography scan of the temporal bones, ophthalmologic examination with fundoscopy, and an electroretinogram. Cerebral magnetic resonance imaging and vestibular examination were performed in 9 of 13 and 10 of 13 cases, respectively. Logopedic outcome measured preimplant and postimplant closed- and open-set word recognition and oral expression at follow-up. The most frequent initial sign of Usher syndrome was delayed walking, with a mean age of 20 months. Among the 172 other congenitally deaf children with implants, when deafness was not associated with other neurologic disorders, the mean age at walking was 14 months (p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). The fundoscopy was always abnormal after the age of 5 years, and the electroretinogram was abnormal in all cases. Vestibular function was abnormal in all but one case (nonclassified). The computed tomography scan and the magnetic resonance imaging were always normal. Logopedic results with cochlear implants showed good perception skills in all but one case. The best perceptive results were obtained in children implanted before the age of 9 years. Oral language had significantly progressed in 9 of 13 at follow-up. There was no relation between the visual acuity and the logopedic results. The earliest clinical sign associated with deafness evoking Usher syndrome is late walking. The electroretinogram is the only reliable examination to enable the diagnosis. When severe profound deafness is associated with late walking, the electroretinogram should be systematically proposed. Logopedic results are linked to precocity of implantation, and early Usher&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s diagnosis contributes to optimize speech therapy.

Research paper thumbnail of Auditory Neuropathy or Endocochlear Hearing Loss?

Otology & Neurotology, 2005

The purpose of the study was to define boundaries between endocochlear hearing loss and auditory ... more The purpose of the study was to define boundaries between endocochlear hearing loss and auditory neuropathy in children with congenital profound hearing loss and positive otoacoustic emissions. A child presented with bilateral profound hearing loss, which was confirmed by the absence of evoked auditory potentials at 110 dB and with conserved otoacoustic emissions. The lack of any relevant medical history, a normal neurologic pediatric examination, and the improvement obtained with powerful hearing aids suggested an endocochlear cause. Genetic testing identified mutations in OTOF, responsible for the DFNB9 recessive form of hearing loss. In recent years, cases of children with hearing loss associated with positive otoacoustic emissions have been labeled as &amp;amp;quot;auditory neuropathy.&amp;amp;quot; Classically, this form of hearing loss is refractory to the use of hearing aids and cochlear implants. Mutations in OTOF lead to inner hair cells dysfunction, whereas the outer hair cells are initially functionally preserved. As this form of endocochlear hearing loss can be detected at a molecular level, genetic testing can be proposed for cases of nonsyndromic auditory neuropathy, as those children could benefit from cochlear implantation. It is advisable to reserve the term &amp;amp;quot;auditory neuropathy&amp;amp;quot; for patients who present hearing loss and conserved otoacoustic emissions in the context of a neurologic syndrome or for children with suggestive perinatal history. In other cases, genetic testing for mutations in OTOF should be carried out.

Research paper thumbnail of Evaluation of Cytomegalovirus (CMV) DNA Quantification in Dried Blood Spots: Retrospective Study of CMV Congenital Infection

Journal of Clinical Microbiology, 2007

Human cytomegalovirus (CMV) is the main organism responsible for congenital infection and permane... more Human cytomegalovirus (CMV) is the main organism responsible for congenital infection and permanent deafness in young children in developing countries (13). Policies for screening during pregnancy and at birth have not been implemented in European countries or in the United States, essentially because there is no well-established treatment for pregnant women or for newborns with CMV infection (7). Retrospective diagnosis of congenital infection has been achieved by PCR detection of the CMV DNA in dried blood spots (DBS) stored on perinatal Guthrie cards . Only one protocol (heat DNA extraction, followed by nested PCR) has been extensively evaluated in a clinical setting, with excellent sensitivity and specificity compared to that of viral isolation in the urine (1, 2). However, lower sensitivities (63 and 71%) were reported using the same protocol (5, 16). Alternative methods based on either phenol-chloroform or silica extraction protocols have been proposed, but their sensitivities (81% and 100%, respectively) were studied only with small numbers of patients (9, 14).

Research paper thumbnail of Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

European Journal of Human Genetics, 2004

Mutations in GJB2 are the most common cause of congenital nonsyndromic hearing loss. The controve... more Mutations in GJB2 are the most common cause of congenital nonsyndromic hearing loss. The controversial allele variant M34T has been hypothesized to cause autosomal dominant or recessive nonsyndromic hearing impairment and some in vitro data has been consistent with this hypothesis. In this report, we present the clinical and genotypic study of 11 families (seven familial forms of nonsyndromic sensorineural hearing loss (NSSNHL) and four sporadic cases) in which the M34T GJB2 variant has been identified. The M34T mutation did not segregate with the deafness in six of the seven familial forms of NSSNH. Eight persons with normal audiogram presented a heterozygous M34T variation and five normal hearing individuals were composite heterozygous for M34T and another GJB2 mutation. Four normal hearing individuals with a documented audiogram were M34T/35delG and one was M34T/(GJB6-D13S1830)del. Screening a French control population of 116 subjects we have found an M34T allele frequency of 1.72%. This percentage was not significatively different from the prevalence of the M34T allele in the deaf population, which was 2.12%. All these data suggest that the M34T variant is not clinically significant in human and is a frequent polymorphism in France.

Research paper thumbnail of Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Clinical Genetics, 2004

Sensorineural hearing defect and goiter are common features of Pendred&amp;amp;#39;s syndrome... more Sensorineural hearing defect and goiter are common features of Pendred&amp;amp;#39;s syndrome. The clinical diagnosis of Pendred&amp;amp;#39;s syndrome remains difficult because of the lack of sensitivity and specificity of the thyroid signs. The identification of PDS as the causative gene allowed molecular screening and enabled a re-evaluation of the syndrome to identify potential diagnostic characteristics. This report presents the clinical and genotypic findings of 30 French families, for whom a diagnosis of Pendred&amp;amp;#39;s syndrome had been made. Twenty-seven families had at least one mutated allele. Twenty-eight different mutations were identified, 11 of which had never been previously reported. The main clinical characteristics were: early hearing loss, fluctuation in terms of during deafness evolution, and the presence of an enlarged vestibular aqueduct.

Research paper thumbnail of Bilateral implantation in children with cochleovestibular nerve hypoplasia

International journal of pediatric otorhinolaryngology, 2009

To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inn... more To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive...

Research paper thumbnail of Canalplasty for congenital atresia of the external auditory canal

European annals of otorhinolaryngology, head and neck diseases, 2013

Canalplasty for congenital atresia of the external auditory canal is associated with a high posto... more Canalplasty for congenital atresia of the external auditory canal is associated with a high postoperative stenosis rate in the literature. The authors describe an original surgical and stenting technique that has been used systematically since 2000 in the paediatric otolaryngology department of Trousseau hospital in Paris. After minimal endaural canalplasty, possibly combined with lining of the external auditory canal by skin graft, a stent is sutured to the opening of the ear canal and left in place for 4 weeks. This stenting technique can be used for a shorter duration after tympanoplasty in children with behavioural disorders.

Research paper thumbnail of Cochlear implant in the carotid canal. Case report and literature review

International journal of pediatric otorhinolaryngology, 2010

Numerous complications have been described following cochlear implantation. Most of them are post... more Numerous complications have been described following cochlear implantation. Most of them are post-operative and benign, but some are intra-operative and can be more difficult to manage. Case report of a pediatric case of misplaced cochlear electrode in the carotid canal and literature review. Post-operative CT-scan allowed the diagnosis. The misplaced cochlear implant in the carotid canal was successfully removed and a successful re-implantation followed immediately. Anatomy of the interval between the cochlea and the carotid canal is reviewed, together with information regarding the neural telemetry response. In each case, specific anatomical landmarks must be identified to perform the cochleostomy in the right position. If not, or if surgery proves itself difficult, the surgeon should intra-operatively control the position of the electrode.

Research paper thumbnail of Results of cochlear implantation in two children with mutations in the OTOF gene

International journal of pediatric otorhinolaryngology, 2006

The purpose of the study is to present the results of cochlear implantation in case of deafness i... more The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence of transient evoked otoacoustic emissions (TEOAE). In cases of profound deafness with preserved TEOAE, two main etiologies should be considered: either an auditory neuropathy (a retrocochlear lesion) or an endocochlear lesion. It is essential to differentiate these two entities with regards to therapy and screening. We report two children who presented with profound prelingual deafness, confirmed by the absence of detectable responses to auditory evoked potentials (AEP), associated with the presence of bilateral TEOAE. Genetic testing revealed mutations in OTOF, confirming DFNB9 deafness. Both patients have been successfully implanted (with a follow-up of 18 and 36 months, respectively). Clinical (oral production, closed and open-set words and sentences list, meaningful auditory integration scale)...

Research paper thumbnail of Cochlear implant failure and revision surgery in pediatric population

The Annals of otology, rhinology, and laryngology, 2015

This study aimed to report pediatric cochlear reimplantation data focusing on failure of the devi... more This study aimed to report pediatric cochlear reimplantation data focusing on failure of the device and to assess surgical challenges and functional outcomes. Retrospective case review from 1990 to 2012. Tertiary referral academic center. A retrospective review of medical and surgical records, audiologic results, and report of the manufacturer's analysis was performed. The causes of revision cochlear implantation were divided into hard failure and soft failure. Results compared speech perception in open set or closed set words before and after revision surgery with cochlear implant only. During the study period, 877 cochlear implantations were performed. Our reimplantation rate for failure of the device is 5.7% (50 of 877). The main reasons for hard failure were loss of hermeticity and cracked casing following head trauma. Surgical difficulties might be due to neo-osteogenesis related to the use of bone dust. Initial atraumatic insertion is important to ensure that revision surg...

Research paper thumbnail of Pediatric Cochlear Implantation in Residual Hearing Candidates

The Annals of otology, rhinology, and laryngology, Jan 13, 2015

To propose categories for the various types of residual hearing in children and to review the out... more To propose categories for the various types of residual hearing in children and to review the outcomes of cochlear implantation (CI) in children with these different hearing conditions. We identified 53 children with residual hearing who had received a cochlear implant. Five groups were arbitrarily defined based on auditory features: G1, characterized by low-frequency residual hearing (n = 5); G2, characterized by severe sensorineural hearing loss (SNHL) and low speech discrimination (n = 12); G3, characterized by asymmetric SNHL (n = 9); G4, characterized by progressive SNHL (n = 15); and G5, characterized by fluctuating SNHL (n = 12). The main audiometric features and outcomes of the groups were analyzed. The mean age at implantation was 10.15 years (range, 2.5-21 years). The mean preoperative score for the discrimination of open-set words was 48%; this score increased to 74% at 12 months and 81% at 24 months after the CI procedure (G1 to G5, respectively: 79/62/77%, 50/81/88%, 59...

Research paper thumbnail of Cochlear implant and inner ear malformation

International Journal of Pediatric Otorhinolaryngology, 2008

The objective of this retrospective study is to evaluate the efficiency of hyperosmolar therapy f... more The objective of this retrospective study is to evaluate the efficiency of hyperosmolar therapy for cerebrum spinal fluid (CSF) leakage in cochlear implant (CI) surgery in children with inner ear malformations. Between 1991 and 2006, 490 cochlear implantations were performed in Armand Trousseau Children's Hospital. Thirty-seven patients (7.5%) had inner ear malformation. They were classified as isolated enlargement of the vestibular aqueduct (EVA) (18 cases), incomplete partition (IP) (11 cases), common cavity (CC) (1 case) and variable canal and vestibular malformations (VSCC) (7 cases). A hyperosmolar protocol was applied during surgery to 13 patients after 2003 (Gp) to be compared to the 24 patients without treatment previously to this date (G0). Mean age at implant CI was 8.1 years (1-20 years), mean follow up was 3.9 years (1 month-15 years). Per operative observations were collected for all patients with an empiric method of evaluation of the leakage. A grading using five steps ranged from Grade 0 (no leak) to Grade 4 (gusher). Grading, complications and perceptive results in closed and open set word (Lafon lists) at respectively preoperatively, at 3 and 24 months were gathered and compared between the two groups. Important per operative leak was observed (Grade 4) in 24.3% cases (9/37) of Grade 4, 88.8% of them in G0 (8/9). In 66.6% cases there was a severe dysplasia (CC or IP) (6/9), to be compared to the 21.4% of cases of severe dysplasia with Grade < 3 (6/28) ( p = 0.02). Grade 4 was seen in 45% cases of IP (5/11); it represented 33.3% of the IP in Gp (1/3), and 50% of the IP in G0 (4/8) ( p > 0.05). Grade 4 was seen in 16.6% cases of EVA (3/18); there were no Grade 4 observed in Gp (0/10), and 37.5% cases of EVA in G0 (3/8) ( p = 0.04). Grade 4 was observed in 100% case in CC in the G0 (1/1). Severe complications were misplacement of the electrode in one case (G0), persistent leakage in one case (G0) and meningitis in one case (Gp). Vertigo was observed in 29.7% of cases (11/37) in this population, 72.7% of them in G0 * Corresponding author at: Service d'Oto-rhino-laryngologie et de chirurgie cervico-faciale, Hôpital d'enfants Armand-Trousseau,

Research paper thumbnail of Cochlear implantation and vestibular function in children

International Journal of Pediatric Otorhinolaryngology, 2015

To analyze vestibular function Q2 (VF) after cochlear implantation (CI) in children. Retrospectiv... more To analyze vestibular function Q2 (VF) after cochlear implantation (CI) in children. Retrospective cohort study at a tertiary pediatric referral center. 43 children that had vestibular testing (VT) after unilateral cochlear implantation, from 2001 to 2010, were included. CT scan of the temporal bone was done systematically before surgery. VT included three tests: head-impulse test, caloric tests, vestibular evoked myogenic potentials. VF was graded in: normal (type 1), partial dysfunction (type 2), severe dysfunction and areflexia (type 3). In 12 cases, VT was done before and after CI. Vestibular function was analyzed looking to side, etiology and preoperative status. Mean age at CI was 2.9 years. Bilateral inner ear malformation were retrieved in 16%. Before surgery, 50% of children had normal vestibular responses, 4/12 had bilateral type 2, two had asymmetrical VF. In this group, after surgery, 2 children had VF worsening, none on the CI side only. Considering all 43 patients, post operative VT showed normal response in 48.8% and type 2&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;3 in 16.2%. Children had asymmetrical poorer vestibular function on the side of CI in 19%. Among them, 75% had normal contralateral VF. Sensorineural hearing loss etiologies known to be associated with vestibulopathy (Usher/Meningitis/Inner Ear Malformations/CMV) were associated to abnormal vestibular function more frequently than in other causes (p=0.01). Half of the children had initial vestibular dysfunction. In our study, 20% of cochlear implantation could have worsened vestibular function. As vestibular function should be part of the choice in cochlear implantation, side of implantation and survey; and vestibular tests are uneasy to achieve in pediatric population, we propose a three-steps evaluation and gradation which allow easier comparison.

Research paper thumbnail of Mycophenolate mofetil as a treatment of steroid dependent Cogan's syndrome in childhood

International Journal of Pediatric Otorhinolaryngology, 2009

Research paper thumbnail of Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

International Journal of Pediatric Otorhinolaryngology, 2010

Objective: To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing... more Objective: To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia). Methods: We have gathered 25 patients presenting unilateral hearing impairment and ipsilateral enlarged vestibular aqueduct. For each of the patients, we have analyzed SLC26A4, FOXI1 and KCNJ10 genes sequences. Results: The analysis of SLC26A4 revealed only eight heterozygous SLC26A4 sequence variants, three of them being novel (p.Met147Ile, p.Asn538Asn and p.Leu627Arg). None of the patients carried a second mutation on the other allele. Moreover, the SLC26A4 locus was excluded by segregation analysis in two families. No mutations were present in FOXI1 and KCNJ10 genes. Conclusions: Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct. ß

Research paper thumbnail of Audiophonological results after cochlear implantation in 40 congenitally deaf patients: preliminary results

International Journal of Pediatric Otorhinolaryngology, 2000

The aim of this study is to evaluate the prognostic factors of audiophonological results in cochl... more The aim of this study is to evaluate the prognostic factors of audiophonological results in cochlear implant in congenitally deaf patients. Between 1991 and 1996. 40 congenitally deaf children underwent cochlear implantation in our department, at an average age of 7 years (median: 5 years). The results of speech therapy were evaluated with a mean follow-up of 2 years and were classified according to four criteria: perception of sound, speech perception, speech production and the level of oral language. For each criterion, a score was established ranging from zero to four. These scores were weighted according to age such that the results before and after implantation only reflected the changes related to the implantation. The prognostic factors for good results were: a good level of oral communication before implantation, residual hearing, progressive deafness and implantation at a young age. On the other hand, poor prognostic factors were: the presence of behavioral disorders and poor communication skills prior to implantation. Overall, the major prognostic factor for a good outcome appeared to be the preoperative level of oral language, even if this was rudimentary.

Research paper thumbnail of Hearing rehabilitation with the closed skin bone-anchored implant Sophono Alpha1: Results of a prospective study in 15 children with ear atresia

International journal of pediatric otorhinolaryngology, Jan 3, 2015

To study gain and cutaneous tolerance of the Sophono Alpha1 implant, used for unilateral hearing ... more To study gain and cutaneous tolerance of the Sophono Alpha1 implant, used for unilateral hearing rehabilitation in children with ear atresia, and to demonstrate non-inferiority compared to the referral closed skin device, BAHA® on a test-band. Fifteen children included in a prospective clinical trial from September 2010 to November 2012. Tertiary care center. Main outcomes: Pure tone and speech audiometry before surgery and at M6 and 12; Speech-in-noise tests with and without Alpha1 at M6. Quality of life questionnaire completed before surgery and at M6; children and parent's satisfaction assessed at M6. Cutaneous appearance assessed at M6, M12 and during the last clinical assessment. Patients' ages ranged from 61 to 129 months. They had a pure conductive deafness with a mean air conduction pure-tone average (ACPTA) of 69.02±9.31dB, and a mean SRT of 71.73±9.20dB. Follow-up was 12-32 months. At M6, the mean aided ACPTA was 33.49±4.89dB, the mean aided SRT 38.27±4.54dB and th...

Research paper thumbnail of OTOLARYNGOLOGY-HEAD & NECK SURGERY

Research paper thumbnail of Genotypic and Phenotypic Correlations in a Large Cohort of Hearing-Impaired Patients

Research paper thumbnail of Cochlear Implantation in Children with Internal Ear Malformations

Otology & Neurotology, 2005

To evaluate surgical aspects and results of cochlear implantation in inner ear malformations. Ret... more To evaluate surgical aspects and results of cochlear implantation in inner ear malformations. Retrospective cohort study. Ear, nose, and throat department of a tertiary referral hospital. Out of 260 implanted children, 18 (6.9%) had inner ear malformations: complex cochleovestibular malformation (n = 11), common cavity (n = 1), and enlarged vestibular aqueduct (EVA) (n = 6). Deafness was progressive in 12 cases (G1) and congenital in 6 cases (G2). Genetics lead to diagnosis in 12 of 13 cases: PSD mutation (n = 11), Waardenburg syndrome (n = 1), negative (1). Mean age at implant was 7.8 years. Mean follow-up period was 48 months. Medical and surgical outcomes were reported. Closed (CSW) and open (OSW) set word perception and level of speech production were evaluated each year. The results were compared pre- and postoperatively and between the two groups. Gusher at surgery was observed in 50% of cases, with a persistent leak in one case. No facial injury or infectious complications were observed. At 12 months, 83% of the population had achieved more than 75% recognition in CSW, versus 16% before implant (p = 0.001). After 2 years, 64% of patients had more than 50% recognition in OSW. Good oral language was seen in 76% at 2 years and 100% at 3 years, versus 55% before implant (respectively, p &gt; 0.05 and p = 0.03). At 1 year after implant, 83% of the G1 and 20% of the G2 achieved more than 50% recognition in OSW (p = 0.02). After 24 months, 83% of G1 and 40% of G2 had more than 50% in OSW (p &gt; 0.05). Before implant, 75% in G1 and 0% in G2 had good oral language (p = 0.01). At 1 year, 83% in G1 and 16% in G2 had good oral language (p = 0.02). At 2 years, 100% in G1 and 20% in G2 had good oral language (p = 0.02). One child in G1 had no improvement after implantation. No major complication was seen. Perceptive and linguistic results were variable and depended on the type of the deafness. In progressive deafness, the perceptive and linguistic result are expected to be good. In congenital deafness, the results are more variable.

Research paper thumbnail of Usher Syndrome and Cochlear Implantation

Otology & Neurotology, 2003

To evaluate the symptoms leading to diagnosis and the quality of rehabilitation after cochlear im... more To evaluate the symptoms leading to diagnosis and the quality of rehabilitation after cochlear implantation in Usher syndrome. Retrospective cohort study. ENT department of a tertiary referral hospital. Among 210 patients given an implantation in the Ear, Nose, and Throat department, 185 were congenitally deaf and 13 had Usher syndrome (7.0%). Five had a family history of Usher, and eight were sporadic cases. Eleven cases were Usher type I, one was Usher type III, and one was not classified. The age at implantation ranged from 18 months to 44 years (mean, 6 years 1 month). The mean follow-up was 52 months (range, 9 months to 9 years). All patients had audiophonological and clinical examination, computed tomography scan of the temporal bones, ophthalmologic examination with fundoscopy, and an electroretinogram. Cerebral magnetic resonance imaging and vestibular examination were performed in 9 of 13 and 10 of 13 cases, respectively. Logopedic outcome measured preimplant and postimplant closed- and open-set word recognition and oral expression at follow-up. The most frequent initial sign of Usher syndrome was delayed walking, with a mean age of 20 months. Among the 172 other congenitally deaf children with implants, when deafness was not associated with other neurologic disorders, the mean age at walking was 14 months (p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). The fundoscopy was always abnormal after the age of 5 years, and the electroretinogram was abnormal in all cases. Vestibular function was abnormal in all but one case (nonclassified). The computed tomography scan and the magnetic resonance imaging were always normal. Logopedic results with cochlear implants showed good perception skills in all but one case. The best perceptive results were obtained in children implanted before the age of 9 years. Oral language had significantly progressed in 9 of 13 at follow-up. There was no relation between the visual acuity and the logopedic results. The earliest clinical sign associated with deafness evoking Usher syndrome is late walking. The electroretinogram is the only reliable examination to enable the diagnosis. When severe profound deafness is associated with late walking, the electroretinogram should be systematically proposed. Logopedic results are linked to precocity of implantation, and early Usher&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s diagnosis contributes to optimize speech therapy.

Research paper thumbnail of Auditory Neuropathy or Endocochlear Hearing Loss?

Otology & Neurotology, 2005

The purpose of the study was to define boundaries between endocochlear hearing loss and auditory ... more The purpose of the study was to define boundaries between endocochlear hearing loss and auditory neuropathy in children with congenital profound hearing loss and positive otoacoustic emissions. A child presented with bilateral profound hearing loss, which was confirmed by the absence of evoked auditory potentials at 110 dB and with conserved otoacoustic emissions. The lack of any relevant medical history, a normal neurologic pediatric examination, and the improvement obtained with powerful hearing aids suggested an endocochlear cause. Genetic testing identified mutations in OTOF, responsible for the DFNB9 recessive form of hearing loss. In recent years, cases of children with hearing loss associated with positive otoacoustic emissions have been labeled as &amp;amp;quot;auditory neuropathy.&amp;amp;quot; Classically, this form of hearing loss is refractory to the use of hearing aids and cochlear implants. Mutations in OTOF lead to inner hair cells dysfunction, whereas the outer hair cells are initially functionally preserved. As this form of endocochlear hearing loss can be detected at a molecular level, genetic testing can be proposed for cases of nonsyndromic auditory neuropathy, as those children could benefit from cochlear implantation. It is advisable to reserve the term &amp;amp;quot;auditory neuropathy&amp;amp;quot; for patients who present hearing loss and conserved otoacoustic emissions in the context of a neurologic syndrome or for children with suggestive perinatal history. In other cases, genetic testing for mutations in OTOF should be carried out.

Research paper thumbnail of Evaluation of Cytomegalovirus (CMV) DNA Quantification in Dried Blood Spots: Retrospective Study of CMV Congenital Infection

Journal of Clinical Microbiology, 2007

Human cytomegalovirus (CMV) is the main organism responsible for congenital infection and permane... more Human cytomegalovirus (CMV) is the main organism responsible for congenital infection and permanent deafness in young children in developing countries (13). Policies for screening during pregnancy and at birth have not been implemented in European countries or in the United States, essentially because there is no well-established treatment for pregnant women or for newborns with CMV infection (7). Retrospective diagnosis of congenital infection has been achieved by PCR detection of the CMV DNA in dried blood spots (DBS) stored on perinatal Guthrie cards . Only one protocol (heat DNA extraction, followed by nested PCR) has been extensively evaluated in a clinical setting, with excellent sensitivity and specificity compared to that of viral isolation in the urine (1, 2). However, lower sensitivities (63 and 71%) were reported using the same protocol (5, 16). Alternative methods based on either phenol-chloroform or silica extraction protocols have been proposed, but their sensitivities (81% and 100%, respectively) were studied only with small numbers of patients (9, 14).

Research paper thumbnail of Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

European Journal of Human Genetics, 2004

Mutations in GJB2 are the most common cause of congenital nonsyndromic hearing loss. The controve... more Mutations in GJB2 are the most common cause of congenital nonsyndromic hearing loss. The controversial allele variant M34T has been hypothesized to cause autosomal dominant or recessive nonsyndromic hearing impairment and some in vitro data has been consistent with this hypothesis. In this report, we present the clinical and genotypic study of 11 families (seven familial forms of nonsyndromic sensorineural hearing loss (NSSNHL) and four sporadic cases) in which the M34T GJB2 variant has been identified. The M34T mutation did not segregate with the deafness in six of the seven familial forms of NSSNH. Eight persons with normal audiogram presented a heterozygous M34T variation and five normal hearing individuals were composite heterozygous for M34T and another GJB2 mutation. Four normal hearing individuals with a documented audiogram were M34T/35delG and one was M34T/(GJB6-D13S1830)del. Screening a French control population of 116 subjects we have found an M34T allele frequency of 1.72%. This percentage was not significatively different from the prevalence of the M34T allele in the deaf population, which was 2.12%. All these data suggest that the M34T variant is not clinically significant in human and is a frequent polymorphism in France.

Research paper thumbnail of Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Clinical Genetics, 2004

Sensorineural hearing defect and goiter are common features of Pendred&amp;amp;#39;s syndrome... more Sensorineural hearing defect and goiter are common features of Pendred&amp;amp;#39;s syndrome. The clinical diagnosis of Pendred&amp;amp;#39;s syndrome remains difficult because of the lack of sensitivity and specificity of the thyroid signs. The identification of PDS as the causative gene allowed molecular screening and enabled a re-evaluation of the syndrome to identify potential diagnostic characteristics. This report presents the clinical and genotypic findings of 30 French families, for whom a diagnosis of Pendred&amp;amp;#39;s syndrome had been made. Twenty-seven families had at least one mutated allele. Twenty-eight different mutations were identified, 11 of which had never been previously reported. The main clinical characteristics were: early hearing loss, fluctuation in terms of during deafness evolution, and the presence of an enlarged vestibular aqueduct.